Canonical Allele Identifier: CA357627183
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008304-G-A
MyVariant Identifiers: chr4:g.88929456G>A (hg19) chr4:g.88008304G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008304G>A , CM000666.2:g.88008304G>A GRCh38
NC_000004.11:g.88929456G>A , CM000666.1:g.88929456G>A GRCh37
NC_000004.10:g.89148480G>A NCBI36
NG_008604.1:g.5637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.571G>A MANE Select ENSP00000237596.2:p.Glu191Lys
ENST00000237596.6:c.571G>A ENSP00000237596.2:p.Glu191Lys
ENST00000506727.1:n.73G>A
NM_000297.3:c.571G>A NP_000288.1:p.Glu191Lys
XM_011532028.1:c.571G>A XP_011530330.1:p.Glu191Lys
XR_244632.2:n.666G>A
NR_156488.1:n.658G>A
XM_011532028.2:c.571G>A XP_011530330.1:p.Glu191Lys
NM_000297.4:c.571G>A MANE Select NP_000288.1:p.Glu191Lys
NR_156488.2:n.670G>A
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